Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.Q1836R
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MYH9

NM_002473.6:p.Q1836R

Associated Papers

Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.

Casas-Mao D et al.

The Journal of Biological Chemistry, 2024

38042490 (PubMed )
Supplement: mmc1.docx

A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia.

Yamanouchi J et al.

Annals of Hematology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."